MYBPC3 c.160A>G ;(p.K54E)

Variant ID: 11-47372922-T-C

NM_000256.3(MYBPC3):c.160A>G;(p.K54E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

International Journal Of Molecular Sciences
Su, Ming M; Wang, Jizheng J; Kang, Lianming L; Wang, Yilu Y; Zou, Yubao Y; Feng, Xinxing X; Wang, Dong D; Ahmad, Ferhaan F; Zhou, Xianliang X; Hui, Rutai R; Song, Lei L
Publication Date: 2014-05-26

Variant appearance in text: MYBPC3: 160A>G
PubMed Link: 24865491
Variant Present in the following documents:
  • Main text
  • ijms-15-09302.pdf
View BVdb publication page